Comprehensive Examination Flashcards
A 25-year-old woman comes into your
office complaining of “spotting” and having
“stomach pains” as she points to her lower
abdominal area. She noted that she and her
husband were trying to have a baby and that
she had her last period about 5 weeks ago.
She said that after talking with her girlfriends
about her symptoms, she was a little afraid
of what it could be, so she decided to see a
physician. Her chart shows that she has had
a history of pelvic inflammatory disease.
Relevant physical exam findings include a
tender pelvic mass was palpable, amenorrhea,
light vaginal bleeding, and lower abdominal
pain. Relevant laboratory findings include
elevated -human chorionic gonadotropin
(hCG) levels but lower than expected for
pregnancy, lower-than-normal progesterone
levels, and ultrasound that showed a mass
in the ampulla of the left uterine tube.
Which of the following is the most likely
diagnosis?
A. Choriocarcinoma B. A bleeding corpus luteum C. A spontaneous abortion D. Ectopic tubal pregnancy E. Appendicitis
D. Ectopic tubal pregnancy
Ectopic tubal pregnancy (ETP) occurs when the blastocyst implants within the uterine
tube due to delayed transport. The ampulla of the uterine tube is the most common site of
an ectopic pregnancy. The rectouterine pouch (pouch of Douglas) is a common site for an
ectopic abdominal pregnancy. ETP is most commonly seen in women with endometriosis
or pelvic inflammatory disease. ETP leads to uterine tube rupture and hemorrhage if surgical
intervention (i.e., salpingectomy) is not performed. ETP presents with abnormal
uterine bleeding and unilateral pelvic pain, which must be differentially diagnosed from
appendicitis, an aborting intrauterine pregnancy, or a bleeding corpus luteum of a normal
intrauterine pregnancy. See Chapter 2, IV.A.
A 31-year-old woman comes into the
office complaining of “running a fever,”
being nauseated, and losing weight—“about
15 pounds or so”—over the last month. She
tells you that she had a miscarriage about 2
months ago and “all of a sudden these other
problems come up.” She added that she said
that the doctors said she had “preeclampsia”
during her first trimester of that pregnancy.
She said that she was supposed to come back
in, but she didn’t because she “felt depressed
about losing the baby.” She remarks that she
hasn’t had any changes in her diet and
remarked that she “thought she would have
gained weight with all the food she was eating.”
Relevant physical exam findings
include normal thyroid gland on palpation,
no coughing of blood, and no diarrhea. Relevant
laboratory findings include elevated
hCG levels and normal thyroxine (T4) and
thyroid-stimulating hormone (TSH) levels.
Which of the following is the most likely
diagnosis?
A. Achalasia B. Hyperthyroidism C. Pelvic inflammatory disease D. Hydatidiform mole E. Gestational trophoblastic neoplasia (or choriocarcinoma)
E. Gestational trophoblastic neoplasia
Gestational trophoblastic neoplasia (GTN; or choriocarcinoma). GTN is a malignant
tumor of the trophoblast that may occur following a normal or ectopic pregnancy, abortion,
or a hydatidiform mole. With a high degree of suspicion, elevated hCG levels are diagnostic.
Nonmetastatic GTN (i.e., confined to the uterus) is the most common form of the neoplasia,
and treatment is highly successful. However, the prognosis of metastatic GTN is
poor if it spreads to the liver or brain. See Chapter 3, IV.D.
A 37-year-old woman who is in her third
trimester comes into your clinic complaining
of bleeding that lasted for about “an
hour or two.” She remarks she noticed that
the bleeding was “very bright red” in color
but felt no noticeable pain. She said that she
did nothing to cause the bleeding and “was
concerned for the safety of her baby.” Relevant
physical exam findings include no
abdominal or pelvic pain on palpation. Relevant
laboratory findings include transvaginal
ultrasound showing an intact, normally
implanted placenta; however, the placenta
was located in close proximity of the
internal os. Which of the following is the
most likely diagnosis?
A. Placenta previa B. Placental abruption C. Placenta accreta D. Velamentous placenta E. Membranous placenta
A. Placenta previa.
Placenta previa occurs when the placenta attaches in the lower part of
the uterus, covering the internal os. The placenta normally implants in the posterior superior
wall of the uterus. Uterine (maternal) blood vessels rupture during the later part of
pregnancy as the uterus begins to gradually dilate. The mother may bleed to death, and the
fetus will also be placed in jeopardy because of the compromised blood supply. Because
the placenta blocks the cervical opening, delivery is usually accomplished by cesarean section.
This condition is clinically associated with repeated episodes of bright, red vaginal
bleeding. Placental abruption would have shown a separation of the placenta and showed
dark-red bleeding accompanied by abdominal pain. Placenta accreta would have shown
the placenta implanted much deeper in the myometrium. See Chapter 6, IX.G.
A 34-year-old woman who is in her third
trimester complains of her hands and face
“swelling up a few days ago.” She remarks
that she has also felt like “her heart was
racing a mile a minute.” Relevant physical
exam findings include hypertension
(160/110 mm Hg) and edema of the hands
and face. Relevant laboratory findings include
proteinuria (5 grams/24 hours), and ultrasound
was unremarkable. Which of the following
is the most likely diagnosis?
A. Molar pregnancy B. Severe preeclampsia C. Choriocarcinoma D. Ectopic tubal pregnancy E. Placental abruption
B. Severe preeclampsia.
Preeclampsia is a complication of pregnancy characterized by
hypertension, edema, and/or proteinuria. Severe preeclampsia refers to the sudden development
of maternal hypertension (blood pressure 160/110 mm Hg), edema (hands
and/or face), and proteinuria (5 grams/24 hours) usually after week 32 of gestation
(third trimester). Eclampsia includes the additional symptom of convulsions. The pathophysiology
of preeclampsia involves a generalized arteriolar constriction that affects the
brain (seizures and stroke), kidneys (oliguria and renal failure), liver (edema), and small
blood vessels (thrombocytopenia and disseminated intravascular coagulation). Treatment
of severe preeclampsia involves magnesium sulfate (for seizure prophylaxis) and
hydralazine (blood pressure control); once the patient is stabilized, delivery of the fetus
should ensue immediately. Risk factors include nulliparity, diabetes, hypertension, renal
disease, twin gestation, or hydatidiform mole (produces first trimester preeclampsia).
Her symptoms of hypertension, proteinuria, and edema are all telltale signs of
preeclampsia. In addition, her advancing age has left to susceptible to this condition. A
molar pregnancy is normally seen in the first trimester. Renal disease is unlikely because
there were no findings other than proteinuria. See Chapter 6, IX.S.
A distraught mother brings her 2-monthold
daughter into your office saying that
she noticed a “lump growing from her
child’s bottom.” She states that she “noticed
it about a 2 weeks ago while changing her
daughter’s diaper.” The lump was small
and she so didn’t think much of it, but
over time it has “grown to the size of
a baseball.” Relevant physical exam findings
include a large spheroid mass that appeared
to be very firm on palpation. Relevant laboratory
findings include biopsy of the mass
showing tissue containing hair, teeth, muscle
fibers, and thyroid follicular cells.
Which of the following is the most likely
diagnosis?
A. Spina bifida with meningocele B. Sacrococcygeal teratoma C. Spina bifida with meningomyelocele D. Chordoma E. Caudal dysplasia (sirenomelia)
B. Sacrococcygeal teratoma.
Sacrococcygeal teratoma (ST) is a tumor that arises from remnants of the primitive streak, which normally degenerates and disappears. ST is
derived from pluripotent cells of the primitive streak and often contains various types of
tissue (e.g., bone, nerve, hair). ST occurs more commonly in female infants and usually
becomes malignant during infancy (must be removed by age 6 months). Caudal dysplasia
(sirenomelia) refers to a constellation of syndromes ranging from minor lesions of lower vertebrae to complete fusion of the lower limbs. Caudal dysplasia is caused by abnormal
gastrulation whereby the migration of mesoderm is disturbed. Spina bifida occurs when
the bony vertebral arches fail to form properly, thereby creating a vertebral defect, usually
in the lumbosacral region. See Chapter 4, V.E.
After the delivery of a healthy baby girl, a
physician notices a tuft of hair on the lower
back of the child. The physician asked the
mother about her prenatal health care, and
she said she didn’t take folic acid until the
second month of pregnancy because she
didn’t know she was pregnant until then. Relevant
physical exam findings include a tuft
of hair on the lower back with no noticeable
sac formation. Relevant laboratory findings
include radiograph showing a defect in the
vertebral arches but no sac filled with fluid
or spinal cord. Which of the following is the
most likely diagnosis?
A. Spina bifida with meningocele B. Spina bifida with meningomyelocele C. Spina bifida occulta D. Spina bifida with rachischisis E. Caudal dysplasia (sirenomelia)
C. Spina bifida occulta.
Spina bifida occurs when the bony vertebral arches fail to form properly, thereby creating a vertebral defect, usually in the lumbosacral region. Spina bifida occulta is evidenced by a tuft of hair in the lumbosacral region. Spina bifida occulta
is the least severe variation and occurs in 10% of the population. Spina bifida with meningocele occurs when the meninges protrude through a vertebral defect and form a sac filled with cerebrospinal fluid (CSF). The spinal cord remains in its normal position. Spina bifida with meningomyelocele occurs when the meninges and spinal cord protrude through a vertebral defect and form a sac filled with CSF. Spina bifida with rachischisis occurs when the posterior neuropore of the neural tube fails to close during week 4 of
development. This condition is the most severe type of spina bifida, causing paralysis
from the level of the defect caudally. See Chapter 7, XVIII.A.
A distraught father comes in with his
10-year-old son, saying that his son began
“turning blue” when he was out playing
catch with him. His son remarked that he
“just felt really tired” when he was running
after the ball. The father is concerned that
his son will not be able to play in the big
game this weekend. Relevant physical
exam findings include loud holosystolic
ejection murmur on auscultation, cyanosis,
and clubbing of fingernails. Relevant laboratory
findings include echocardiogram
showing right ventricular hypertrophy.
Which of the following is the most likely
diagnosis?
A. Membranous ventricular septal defect B. Eisenmenger complex C. Atrial septal defect D. Patent ductus arteriosus E. Coarctation of the aorta
A. Membranous ventricular septal defect (VSD).
Membranous VSD is caused by faulty
fusion of the right bulbar ridge, left bulbar ridge, and atrioventricular (AV) cushions. It
results in a condition in which an opening between the right and left ventricles allows free
flow of blood. A large VSD is initially associated with a left Sright shunting of blood,
increased pulmonary blood flow, and pulmonary hypertension. One of the secondary
effects of a large VSD and its associated pulmonary hypertension is proliferation of the
tunica intima and tunica media of pulmonary muscular arteries and arterioles, resulting
in a narrowing of their lumen. Ultimately, pulmonary resistance may become higher than
systemic resistance and cause right Sleft shunting of blood and cyanosis. At this stage,
the characteristic of the patient has been termed the “Eisenmenger complex.” This is the
most common type of VSD. An atrial septal defect (ASD) would have a fixed, split S2, systolic
ejection murmur. A patent ductus arteriosus (PDA), which is normally detected in
infants, would have a continuous, machine-like murmur. Coarctation of the aorta would
show a holosystolic murmur; however, there was no finding of a lack of a femoral pulse or
rib notching. See Chapter 5, VII.B.3.
A 39-year-old man comes to your office
complaining of “heartburn after trying to
eat” and not being able to swallow anything.
He states, “I have tried everything from water
to steaks; it doesn’t matter what I eat, I always
have trouble swallowing it down.” Relevant
physical exam findings include dysphagia
and normal thyroid on palpation. Relevant
laboratory findings include barium swallow
radiograph showing a dilated esophagus
with an area of distal stenosis (almost looks
like a “bird’s beak”) and normal T4 levels.
Which of the following is the most likely
diagnosis?
A. Esophageal atresia B. Thyroid tumor C. Esophageal stenosis D. Reflux esophagitis E. Achalasia
E. Achalasia.
Achalasia occurs due to the loss of ganglion cells in the myenteric (Auerbach)
plexus and is characterized by the failure to relax the lower esophageal sphincter, which
will cause progressive dysphagia and difficulty in swallowing. The “bird’s beak” appearance
on the radiograph is a telltale sign of achalasia. Another telltale sign is that patients
have a dysphagia involving both solids and liquids. The physical and lab findings
exclude both thyroid disease and masses. Although reflux esophagitis would present
with heartburn, it is limited to dysphagia of solids only, not solids and liquid. See
Chapter 10, II.A.3.
A mother brings her 1-month-old son
into the clinic, complaining of her son “vomiting
all over the place when he tries to eat
something.” She said her son’s vomiting
looks like it was “shot out of a cannon.” Relevant
physical findings include a small, nontender,
palpable mass on the right costal
margin. Relevant laboratory findings include
barium swallow radiograph showing a narrow
pyloric channel and abdominal ultrasound
showing a hypertrophic pylorus. Which of the
following is the most likely diagnosis?
A. Esophageal hiatal hernia B. Hypertrophic pyloric stenosis C. Malrotation of the midgut with volvulus D. Esophageal stenosis E. Biliary atresia
B. Hypertrophic pyloric stenosis.
Hypertrophic pyloric stenosis occurs when the muscularis externa in the pyloric region hypertrophies, causing a narrow pyloric lumen that
obstructs food passage. It is associated clinically with projectile, nonbilious vomiting after
feeding and a small, palpable mass at the right costal margin. An increased incidence of
hypertrophic pyloric stenosis has been found in infants treated with the antibiotic erythromycin.
See Chapter 10, II.B.3.
A man brings his 3-year-old son into the
office, complaining that his son is having
“bad stomach pains” and talks about him
“running a fever” and “being thirsty all the
time.” He remarks that his son has not had a
bowel movement lately. Relevant physical
exam findings include painless rectal bleeding,
dark red stools, and abdominal distention.
Relevant laboratory findings include
radiograph showing a remnant of the vitelline
duct that was estimated to be about 2 feet
from the ileocecal valve and a biopsy showing
ectopic gastric and pancreatic mucosal
tissue. Which of the following is the most
likely diagnosis?
A. Volvulus B. Intussusception C. Foreign-body obstruction D. Meckel’s diverticulum E. Biliary atresia
D. Meckel’s diverticulum.
Meckel’s diverticulum (ileal diverticulum) occurs when a remnant of the vitelline duct persists, thereby forming an outpouching located on the antimesenteric border of the ileum. The outpouching may connect to the umbilicus via a fibrous cord or fistula. A Meckel’s diverticulum is usually located about 30 cm proximal to the ileocecal valve in infants and varies in length from 2 to 15 cm. Heterotopic gastric or pancreatic
mucosa may be present, which leads to ulceration, perforation, or gastrointestinal bleeding,
especially if a large number of parietal cells are present. It is associated clinically with
symptoms resembling appendicitis and bright-red or dark-red stools (i.e., bloody). See
Chapter 10, III.B.3c.
A nurse comes into your office informing
you that the child you delivered yesterday
failed to pass meconium. The nurse remarks
that the child also cries on palpation of the
abdominal area. Relevant physical exam
finding include abdominal distention,
megacolon on palpation, and gushing of
fecal material on a rectal digital exam. Relevant
laboratory findings include barium
enema showing a dilated proximal segment
and a narrow distal segment of the sigmoid
colon. Which of the following is the most
likely diagnosis?
A. Rectal atresia B. Rectovesical fistula C. Hirschsprung disease D. Anorectal agenesis E. Intussusception
C. Hirschsprung disease (colonic aganglionosis).
Hirschsprung disease is caused by the
arrest of the caudal migration of neural crest cells. The hallmark is the absence of
ganglionic cells in the myenteric and submucosal plexuses most commonly in the sigmoid
colon and rectum, resulting in a narrow segment of colon (i.e., the colon fails to relax).
Although the ganglionic cells are absent, there is a proliferation of hypertrophied nerve
fiber bundles. The most characteristic functional finding is the failure of internal anal
sphincter to relax following rectal distention (i.e., abnormal rectoanal reflex). Mutations of
the RET protooncogene (chromosome 10q.11.2) have been associated with Hirschsprung
disease. It is associated clinically with a distended abdomen, inability to pass meconium,
gushing of fecal material on a rectal digital exam, and a loss of peristalsis in the colon segment
distal to the normal innervated colon. See Chapter 10, IV.B.3a.
A 33-year-old man comes in complaining
of “fever and chills” and that he “has to
constantly go to the bathroom.” He also
indicates that he has pain just below the
abdominal area on the right side. He states
he has not had sexual intercourse in more
than 6 months. He suspects that it may be
urinary tract infection because he “has had a
lot of them over the years.” Relevant physical
exam findings include flank pain and
costovertebral angle tenderness. Relevant
laboratory findings include normal calcium
levels and computed tomography (CT) scan
showing an unusual kidney appearance.
Which of the following is the most likely
diagnosis?
A. Urachal fistula B. Horseshoe kidney C. Pyelonephritis D. Kidney stones E. Polycystic kidney disease
B. Horseshoe kidney.
The symptoms that the man had (fevers, chills, flank pain, and costovertebral
angle tenderness) are classic signs of pyelonephritis as a result of a urinary
tract infection (UTI). In this case, the UTI is a result of a urinary tract obstruction caused
by a horseshoe kidney. The most common type of renal fusion is the horseshoe kidney. A
horseshoe kidney occurs when the inferior poles of the kidneys fuse across the midline.
Normal ascent of the kidneys is arrested because the fused portion gets trapped behind
the inferior mesenteric artery. Kidney rotation is also arrested so that the hilum faces
ventrally. See Chapter 13, VIII.E.
A 16-month-old boy has had recurrent
bouts of cyanosis since birth. His parents tell
you that “he cannot keep up with the other
children his age.” The parents indicate that
their boy frequently turns blue, breathes
heavily on exertion, and sometimes experiences
these difficulties for no reason. On
many occasions, they observed their son in a
squatting position. Relevant physical exam
findings include systolic ejection murmur,
cyanosis, clubbing of the fingernails, and
a parasternal heave. Relevant laboratory
findings include radiographs showing an
enlarged right ventricle and “boot-shaped”
heart, electrocardiogram showing right ventricular
hypertrophy, and echocardiogram
showing pulmonary stenosis, right ventricular
hypertrophy, overriding aorta, and a ventricular
septal defect. Which of the following
is the most likely diagnosis?
A. Tetralogy of Fallot B. Tricuspid atresia C. Total anomalous pulmonary venous return D. Transposition of the great arteries E. Persistent truncus arteriosus
A. Tetralogy of Fallot.
Tetralogy of Fallot (TF) is caused by an abnormal neural crest cell migration such that there is skewed development of the aorticopulmonary (AP) septum. TF results in a condition in which the pulmonary trunk obtains a small diameter while the
aorta obtains a large diameter. TF is characterized by four classic malformations: pulmonary
stenosis, right ventricular hypertrophy, overriding aorta, and a ventricular septal defect
(VSD). Note the mnemonic PROVE. TF is associated clinically with marked cyanosis, in
which the clinical consequences depend primarily on the severity of the pulmonary
stenosis. See Chapter 5, III.B.4.
A 40-year-old mother brings in her
4-week-old baby boy and tells you that
“my baby’s face looks funny and he keeps
sticking his tongue out.” The mother recalls
that during the pregnancy she had low
-fetoprotein (AFP) levels. Relevant physical
exam findings include a flat occiput; white
spots in the iris (Brushfield spots); a large,
protruding tongue; small, low-set ears; short
feet and hands; a flexion crease across the
palms (simian crease); curvature of the fifth
digit; systolic ejection murmur; and hypotonia.
Relevant laboratory findings include
echocardiogram showing an endocardial
cushion defect (atrioventricular septal
defect) and karyotype analysis showing an
extra chromosome 21. Which of the following
is the most likely diagnosis?
A. Cri-du-chat syndrome B. Edwards syndrome C. Fragile X syndrome D. Down syndrome E. Patau syndrome
D. Down syndrome
Down syndrome (trisomy 21) is characterized by moderate mental retardation (leading
cause of inherited mental retardation), microcephaly, microphthalmia, colobomata,
cataracts and glaucoma, flat nasal bridge, epicanthic folds, protruding tongue, simian
crease in hand, increased nuchal skin folds, appearance of an “X” across the face when the
baby cries as the upward-slanted palpebral fissures run in a line with the nasolabial folds,
and congenital heart defects. Alzheimer neurofibrillary tangles and plaques are found in
Down syndrome patients after 30 years of age. Acute megakaryocytic leukemia (AMKL) is
frequently present. Trisomy 21 is the most common type of trisomy, and its frequency
increases with advanced maternal age. Trisomy 21 is associated with low -fetoprotein
levels in amniotic fluid or maternal serum. A specific region on chromosome 21 seems to
be markedly associated with numerous features of Trisomy 21. This region is called DSCR
(Down syndrome critical region). The genes for the following have been mapped to the
DSCR (although their role is far from clear): carbonyl reductase, SIM2 (a transcription
factor), p60 subunit of chromatin assembly factor, holocarboxylase synthetase, ERG (a
protooncogene), GIRK2 (a K ion channel), and PEP19 (a Ca2-dependent signal transducer).
Trisomy 21 may also be caused by a chromosomal translocation between chromosomes
14 and 21 [i.e., t(14;21)]. See Chapter 1, VI.A.
15. C. Pregnancy. Amenorrhea can be primary or se
A 25-year-old woman who is CEO of a
new biotech company has been under considerable stress this last year trying to negotiate a contract with a major drug company.
She has also been under a very rigorous
exercise program because “she just can’t
stand any fat on her body” and ran in the
Boston marathon 4 months ago. Due to her
busy schedule, her eating habits have radically
changed, and sometimes “the sight of
food just disgusts me.” She is not on any
drug medication. She tells you that recently
she met “the guy” and has been sexually
active with him for “about 2 months now.”
She comes to you because her menstrual
cycle is 2 weeks late and sometimes she feels
nauseated, especially in the morning. Relevant
physical exam findings were unremarkable.
Relevant laboratory findings include a
positive -human chorionic gonadotropin
(hCG) test. Which of the following is the
most likely diagnosis?
A. Secondary amenorrhea due to stress B. Secondary amenorrhea due to anorexia nervosa C. Pregnancy D. Turner syndrome E. Secondary amenorrhea due to antipsychotic drug therapy
C. Pregnancy.
Amenorrhea can be primary or secondary. Primary amenorrhea is the complete absence of menstruation in a woman from puberty. The most common cause of primary amenorrhea is Turner syndrome. Secondary amenorrhea is the absence of menstruation for at least 3 months in a woman who previously had normal menstruation. Many factors can cause secondary amenorrhea, including stress, anorexia nervosa, elevated prolactin levels (e.g., prolactinoma or antipsychotic drug therapy), and pregnancy. Of these factors,
only pregnancy is associated with a positive hCG test. See Chapter 22, I, and Chapter 4, V.B.
